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rs121918629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918629(C;T)
Make rs121918629(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165992149
GeneLOC102724058, LOC102724067, SCN1A
is asnp
is mentioned by
dbSNPrs121918629
ebirs121918629
HLIrs121918629
Exacrs121918629
Varsomers121918629
Maprs121918629
PheGenIrs121918629
hapmaprs121918629
1000 genomesrs121918629
hgdprs121918629
ensemblrs121918629
gopubmedrs121918629
geneviewrs121918629
scholarrs121918629
googlers121918629
pharmgkbrs121918629
gwascentralrs121918629
openSNPrs121918629
23andMers121918629
23andMe allrs121918629
SNP Nexus

SNPshotrs121918629
SNPdbers121918629
MSV3drs121918629
GWAS Ctlgrs121918629
Max Magnitude0
OMIM182389
Desc
Variant0013
Relatedalso
OMIM607208
Desc
Variant
Relatedalso
ClinVar
Risk rs121918629(T;T)
Alt rs121918629(T;T)
Reference rs121918629(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed 1
HGVS NC_000002.11:g.166848659G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000013754.26, RCV000013755.18,


[PMID 12566275] Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.